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KMID : 0882419930450030328
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Korean Journal of Medicine
1993 Volume.45 No. 3 p.328 ~ p.336
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The Role of Mitochondrial Aldehyde Dehydrogenase(ALDH2) Deficiency in Koreans with Alcoholic Liver Disease
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변관수
권소영/박상훈/구양서/연종은/김재선/박영태/김진호/김종극
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Abstract
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ackground : Deficiency of mitochonodrial aldehyde dehydrogenase (ALDH2) is an inborn error of metabolism that is responsible for acute alcohol sensitivity (flushing response) observed only in Orientals of Mongoloid origin.The subjects with the
mutant
ALDH2 gene are at much lower risk than homozygotes of normal ALDH2 genes for alcoholic liver disease presumalby because of their sensitivity to alcohol. However, the role of the mutnant ALDH2 gene in the development of alcoholic liver disease had
not
yet been well analyzed. In this study, genotypes of ALDH2 were compared between normal controls and patients with
alcoholic liver disease to clarify the role of ALDH2 deficiency in the development of alcoholic
liver disease.
Method : Genotyping of ALDH2 was performed in 33 normal control and 30 patients with
alcoholic liver disease using the polymerase chain reaction and Southern blot hybridization by
allele-epecific oligonucleotide probes.
Result : In 33 normal controls, 19 cases (57.6%) were homozygotic for the normal ALDH2,
gene, 13 cases (39.4%) were heterozygotic for the normal and mutant ALDH2 genes and Ⅰ
case (3.0%) was homozygotic for the mutant ALDH2 gene. All normal controls who had the
mutant ALDH2 gene experienced facial flushing response after drinking. Amount of alcohol
intake each time in controls who had the mutant ALDH2 gene was much smaller than that in
normal ALDH2 homozygotes (p<0.001). All patients with alcoholic liver disease were
homozygotic for the normal ALDH2 gene. The frequency of ALDH2 deficiency in patients
with alcoholic liver disease was significantly lower than that in normal controls (p<0.001).
Conclusion : These results suggest that ALDH2 deficiency is one of the important genetic
factors in regulating alcohol consumption and plays a protective role against alcoholism and
alcoholic liver diseases.
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